Multiple colonic ulcers associated with trisomy 8: serial changes in colonoscopic findings

Clin J Gastroenterol. 2016 Oct;9(5):298-301. doi: 10.1007/s12328-016-0671-6. Epub 2016 Jul 13.

Abstract

We report a 54-year-old female patient with myelodysplastic syndrome (MDS) associated with trisomy 8, who had multiple colonic ulcers. The patient had been diagnosed as having MDS of refractory cytopenia with trisomy 8 10 years previously. She underwent colonoscopy for abdominal pain, which revealed severe circumferential stenosis with multiple ulcers in the ileocecal region and a discrete excavating ulcer in the transverse colon. The patient had been free from any dermatological, oral, genital or ocular symptoms suggestive of Behçet's disease (BD). A diagnosis of multiple colonic ulcers associated with MDS with trisomy 8 was thus suggested. Follow-up colonoscopies 5 and 6 years later revealed progression of the ileocecal stenosis to a circumferential ulcer, while the ulcer in the transverse colon had not changed. Because our patient lacked extraintestinal symptoms of BD, trisomy 8 was presumed to be responsible for her colonic ulcers.

Keywords: Myelodysplastic syndrome; Simple ulcer; Trisomy 8.

Publication types

  • Case Reports

MeSH terms

  • Cecal Diseases / genetics
  • Chromosomes, Human, Pair 8
  • Colonic Diseases / diagnosis
  • Colonic Diseases / genetics*
  • Colonoscopy
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Humans
  • Ileal Diseases / genetics
  • Intestinal Obstruction / genetics
  • Middle Aged
  • Myelodysplastic Syndromes / diagnosis
  • Myelodysplastic Syndromes / genetics*
  • Trisomy*
  • Ulcer / diagnosis
  • Ulcer / genetics*

Supplementary concepts

  • Chromosome 8, trisomy